Identification of five mutations in a patient with galactose metabolic disorders

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Bibliographic Details
Published inJournal of Pediatric Endocrinology & Metabolism Vol. 31; no. 2; pp. 221 - 222
Main Authors Schulpis, Kleopatra H., Thodi, Georgia, Iakovou, Konstantinos, Dotsikas, Yannis, Molou, Elina, Loukas, Yannis L.
Format Journal Article
LanguageEnglish
Published Germany De Gruyter 01.02.2018
Walter de Gruyter GmbH
Subjects
Female
Galactokinase - genetics
galactosemia
Galactosemias - genetics
Galactosemias - pathology
GALE
GALK
Humans
Infant, Newborn
Mutation
mutations
newborn screening
Prognosis
UDPglucose 4-Epimerase - genetics
GALK
GALE
mutations
galactosemia
newborn screening
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ISSN:0334-018X
2191-0251
DOI:10.1515/jpem-2017-0438